| Gene | Gene Full Name | DSI g | DPI g | pLI | Disease | Type | Score gda | EL gda | EI gda | N. PMIDs | N. SNPs gda | First Ref. | Last Ref. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
E1A binding protein p300 | 0.459 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 19 | 3 | 1963 | 2016 | ||||||||
|
heterogeneous nuclear ribonucleoprotein R | 0.722 | 0.308 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 18 | 1 | 1998 | 2014 | ||||||||
|
dynein cytoplasmic 1 heavy chain 1 | 0.547 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 18 | 4 | 1998 | 2018 | ||||||||
|
collagen type IV alpha 1 chain | 0.484 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 18 | 3 | 1984 | 2015 | ||||||||
|
CREB binding protein | 0.428 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 18 | 2 | 1963 | 2017 | ||||||||
|
synaptic Ras GTPase activating protein 1 | 0.584 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 18 | 9 | 2004 | 2017 | ||||||||
|
glutamate ionotropic receptor NMDA type subunit 2B | 0.510 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 18 | 2 | 2007 | 2017 | ||||||||
|
dual specificity tyrosine phosphorylation regulated kinase 1A | 0.533 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 18 | 2 | 1990 | 2016 | ||||||||
|
synaptotagmin 1 | 0.412 | 0.846 | 0.60 |
|
phenotype | 0.100 | None | 1.000 | 18 | 2 | 1994 | 2016 | ||||||||
|
ankyrin repeat domain 11 | 0.556 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 17 | 5 | 2004 | 2017 | ||||||||
|
phenylalanine hydroxylase | 0.516 | 0.769 | 6.4E-23 |
|
phenotype | 0.100 | None | 1.000 | 17 | 1 | 1993 | 2015 | ||||||||
|
Bardet-Biedl syndrome 10 | 0.644 | 0.538 | 1.7E-12 |
|
phenotype | 0.100 | None | 1.000 | 17 | 2 | 1999 | 2013 | ||||||||
|
purine rich element binding protein A | 0.644 | 0.500 | 0.94 |
|
phenotype | 0.100 | None | 1.000 | 17 | 4 | 1991 | 2018 | ||||||||
|
DEAD-box helicase 3 X-linked | 0.537 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 16 | 8 | 1989 | 2017 | ||||||||
|
structural maintenance of chromosomes 1A | 0.509 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 16 | 3 | 1995 | 2017 | ||||||||
|
hexosaminidase subunit alpha | 0.633 | 0.615 | 1.3E-11 |
|
phenotype | 0.100 | None | 1.000 | 16 | 13 | 1986 | 2014 | ||||||||
|
mediator complex subunit 13L | 0.617 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 16 | 3 | 1971 | 2018 | ||||||||
|
protocadherin 19 | 0.599 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 16 | 1 | 2008 | 2017 | ||||||||
|
Raf-1 proto-oncogene, serine/threonine kinase | 0.418 | 0.885 | 0.85 |
|
phenotype | 0.100 | None | 1.000 | 15 | 1 | 2006 | 2016 | ||||||||
|
kinesin family member 1A | 0.559 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 15 | 1 | 2011 | 2018 | ||||||||
|
forkhead box G1 | 0.522 | 0.692 | 0.94 |
|
phenotype | 0.100 | None | 1.000 | 15 | 3 | 1989 | 2017 | ||||||||
|
solute carrier family 16 member 2 | 0.592 | 0.577 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 15 | 1 | 1990 | 2016 | ||||||||
|
OFD1 centriole and centriolar satellite protein | 0.510 | 0.808 | 0.96 |
|
phenotype | 0.100 | None | 1.000 | 14 | 1 | 2000 | 2016 | ||||||||
|
TTN antisense RNA 1 | 0.599 | 0.577 |
|
phenotype | 0.100 | None | 1.000 | 14 | 3 | 1991 | 2014 | |||||||||
|
enoyl-CoA hydratase, short chain 1 | 0.601 | 0.654 | 8.8E-04 |
|
phenotype | 0.100 | None | 1.000 | 14 | 1 | 2014 | 2018 |